Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome)

PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia.